DSpace university logo mark
Advanced Search
Japanese | English 

NAOSITE : Nagasaki University's Academic Output SITE > School of Medicine > Articles in academic journal >

Unique Mutations of the Cystic Fibrosis Transmembrane Conductance Regulator Gene of Three Cases of Cystic Fibrosis in Nagasaki, Japan


File Description SizeFormat
IM_48_15_1327.pdf426.51 kBAdobe PDFView/Open

Title: Unique Mutations of the Cystic Fibrosis Transmembrane Conductance Regulator Gene of Three Cases of Cystic Fibrosis in Nagasaki, Japan
Authors: Izumikawa, Koichi / Tomiyama, Yumiko / Ishimoto, Hiroshi / Sakamoto, Noriho / Imamura, Yoshifumi / Seki, Masafumi / Sawai, Toyomitsu / Kakeya, Hiroshi / Yamamoto, Yoshihiro / Yanagihara, Katsunori / Mukae, Hiroshi / Yoshimura, Kunihiko / Kohno, Shigeru
Issue Date: Aug-2009
Publisher: 日本内科学会 / The Japanese Society of Internal Medicine
Citation: Internal Medicine, vol.48(15), pp.1327-1331; 2009
Abstract: Cystic fibrosis (CF), the most common lethal hereditary disorder in Caucasians, is quite rare in Southeast Asia including Japan. Here, we report three CF cases encountered in Nagasaki, Japan. Case 1; a 24-year-old man with dyspnea and cough was diagnosed as CF with a missense mutation Q98R in exon 4 and a polymorphic 125C in exon 1 in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Case 2; a 13-year-old woman born of consanguineous parents was diagnosed as CF with homozygous Q98R mutations in exon 4. Case 3; a 29-year-old woman complaining of cough and sputum was diagnosed as CF with a heterozygous R347H mutation in exon 7 and a polymorphic 125C in exon 1. These mutations have been previously reported in Caucasian patients, but are considered very rare. Although the numbers of individuals with CF are very limited, the profiles of CFTR mutations in those patients are likely diverse in Japan.
Keywords: cystic fibrosis / mutation / CFTR
URI: http://hdl.handle.net/10069/22587
ISSN: 09182918
DOI: 10.2169/internalmedicine.48.2078
Rights: Copyright (c) 2009 (社)日本内科学会
Type: Journal Article
Text Version: publisher
Appears in Collections:Articles in academic journal

Citable URI : http://hdl.handle.net/10069/22587

All items in NAOSITE are protected by copyright, with all rights reserved.

 

Valid XHTML 1.0! Copyright © 2006-2015 Nagasaki University Library - Feedback Powerd by DSpace